ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 9 by Illumina Laboratory Services, Illumina

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Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.*1431G>A rs1046150 0.62602
NM_001005242.3(PKP2):c.*1196G>A rs1046138 0.61624
NM_001005242.3(PKP2):c.*251C>G rs12612 0.61058
NM_001005242.3(PKP2):c.*812C>T rs9394 0.50975
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_001005242.3(PKP2):c.2167+7C>T rs74072938 0.06473
NM_001005242.3(PKP2):c.*1271G>C rs12314796 0.05196
NM_001005242.3(PKP2):c.*1563G>T rs1046154 0.05190
NM_001005242.3(PKP2):c.-22C>G rs373925978 0.02916
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_001005242.3(PKP2):c.*646G>A rs144983891 0.00577
NM_001005242.3(PKP2):c.*281A>G rs78540632 0.00463
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483 0.00423
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_004572.3(PKP2):c.-90G>T rs552373947 0.00300
NM_001005242.3(PKP2):c.819G>A (p.Pro273=) rs3748279 0.00266
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001005242.3(PKP2):c.*1394A>T rs112547924 0.00232
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381 0.00229
NM_001005242.3(PKP2):c.*683T>C rs144110140 0.00224
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176 0.00208
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382 0.00195
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_004572.3(PKP2):c.-99T>C rs565997897 0.00098
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00073
NM_001005242.3(PKP2):c.*1246C>T rs187618849 0.00064
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00060
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001005242.3(PKP2):c.*330A>G rs375759731 0.00023
NM_001005242.3(PKP2):c.*110T>G rs575103888 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001005242.3(PKP2):c.*22G>A rs371003054 0.00021
NM_001005242.3(PKP2):c.*839C>T rs542578192 0.00018
NM_001005242.3(PKP2):c.1379-2068C>T rs377424658 0.00016
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met) rs143038626 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336 0.00016
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001005242.3(PKP2):c.1379-2066C>T rs373399921 0.00014
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) rs143782040 0.00013
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662 0.00012
NM_001005242.3(PKP2):c.*303A>G rs148693924 0.00011
NM_001005242.3(PKP2):c.1323G>T (p.Arg441=) rs3748278 0.00011
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) rs370219248 0.00011
NM_001005242.3(PKP2):c.*932C>A rs766792445 0.00010
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001005242.3(PKP2):c.1379-2038T>C rs781397552 0.00008
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084 0.00008
NM_001005242.3(PKP2):c.795G>T (p.Gly265=) rs375268778 0.00007
NM_001005242.3(PKP2):c.*215G>A rs886049318 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631 0.00006
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_001005242.3(PKP2):c.1379-2000T>A rs769899368 0.00005
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) rs201580443 0.00005
NM_001005242.3(PKP2):c.*41G>A rs754465954 0.00004
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln) rs370868564 0.00004
NM_001005242.3(PKP2):c.1379-1997G>A rs781072699 0.00004
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=) rs727504098 0.00004
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=) rs145387575 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=) rs147995773 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001005242.3(PKP2):c.953A>C (p.His318Pro) rs181098323 0.00004
NM_001005242.3(PKP2):c.*227T>C rs886049317 0.00003
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg) rs763492084 0.00003
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val) rs397517002 0.00003
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178 0.00003
NM_001005242.3(PKP2):c.*607A>C rs187797390 0.00002
NM_001005242.3(PKP2):c.1379-2012C>T rs760461056 0.00002
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 0.00002
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961 0.00002
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala) rs867374780 0.00002
NM_001005242.3(PKP2):c.387G>A (p.Gln129=) rs768974835 0.00002
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220 0.00001
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=) rs779749104 0.00001
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val) rs763749576 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.2216C>T (p.Pro739Leu) rs758834771 0.00001
NM_001005242.3(PKP2):c.2455A>G (p.Lys819Glu) rs1235732912 0.00001
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn) rs886049322 0.00001
NM_001005242.3(PKP2):c.837C>T (p.Pro279=) rs572938229 0.00001
NM_001005242.3(PKP2):c.921T>C (p.Ser307=) rs941328238 0.00001
NM_004572.3(PKP2):c.-51C>T rs886049326 0.00001
NM_004572.3(PKP2):c.-66G>C rs1157974448 0.00001
NM_001005242.3(PKP2):c.*1527G>A rs1238128272
NM_001005242.3(PKP2):c.*1602A>G rs760973876
NM_001005242.3(PKP2):c.*180C>G rs886049319
NM_001005242.3(PKP2):c.*252A>G rs886049316
NM_001005242.3(PKP2):c.*400A>G rs529644235
NM_001005242.3(PKP2):c.*429A>T rs1956071585
NM_001005242.3(PKP2):c.*944C>A rs6488090
NM_001005242.3(PKP2):c.1073G>A (p.Ser358Asn) rs1215591759
NM_001005242.3(PKP2):c.1180C>T (p.Leu394Phe) rs886049321
NM_001005242.3(PKP2):c.1189A>G (p.Ile397Val) rs1956691539
NM_001005242.3(PKP2):c.1602A>T (p.Arg534Ser) rs1956409909
NM_001005242.3(PKP2):c.1675-3C>T rs1592737932
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2190G>A (p.Leu730=) rs886049320
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2445+11G>T rs1356336963
NM_001005242.3(PKP2):c.2504T>G (p.Leu835Arg) rs775572104
NM_001005242.3(PKP2):c.38T>A (p.Ile13Asn) rs775889367
NM_001005242.3(PKP2):c.489C>T (p.His163=) rs771398047
NM_004572.3(PKP2):c.-70C>T rs886049327
NM_004572.3(PKP2):c.-79G>T rs886049328

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